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Ahram, D. F. et al. Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.
The Val122Ile (V122I) mutation, which alters the kinetic stability of TTR and affects 3%to4%4% of African American subjects, can lead to development of familial amyloid cardiomyopathy.
These results suggest that a common LRP8 haplotype TCCGC confers a significant protective effect on the development of familial, early-onset CAD and/or MI.
A recent genome-wide association study identified this gene as a risk factor for the development of familial PD [19].
Mutations in APP lead to the development of Familial Alzheimer's Disease (FAD), however, the normal function of this protein has proven elusive.
Dominant mutations in both human Presenilin (Psn) genes have been correlated with the formation of amyloid plaques and development of familial early-onset Alzheimer's disease (AD).
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Andrea Danese, a clinical lecturer in child and adolescent psychiatry at the Institute of Psychiatry, King's College London, said the study suggested that the experience of a nurturing home environment could have an effect on brain development regardless of familial, perhaps genetic, predispositions to better brains.
Here, we discuss their role in the development of other familial colorectal cancers (CRC).
Although genetic mutations contribute to the development of rare familial forms of PD (e.g. mutations in alpha-synuclein, Parkin, LRRK2, PINK1 genes) [24], [25], [26] most of the cases are sporadic and due to unclear aetiologies.
In addition, a previous PCR-based study of a rare familial form of PDA showed that palladin mRNA levels are increased in pre-invasive lesions relative to normal pancreas, suggesting that palladin upregulation may be a marker for early stages in the development of this familial form of the disease [5], and our current results obtained using a mouse model of PDA support this idea.
How fundamental is brain insulin resistance to the development of both familial and sporadic forms of AD?
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